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    PHKA2 phosphorylase kinase regulatory subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 5256, updated on 11-Jul-2021

    Summary

    Official Symbol
    PHKA2provided by HGNC
    Official Full Name
    phosphorylase kinase regulatory subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:8926
    See related
    Ensembl:ENSG00000044446 MIM:300798
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHK; PYK; XLG; PYKL; XLG2; GSD9A
    Summary
    Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in fat (RPKM 8.9), ovary (RPKM 8.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PHKA2 in Genome Data Viewer
    Location:
    Xp22.13
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (18892298..18984114, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18910416..19002232, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BLOC1S6 pseudogene 1 Neighboring gene HAUS augmin like complex subunit 1 pseudogene 2 Neighboring gene PHKA2 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 48, pseudogene Neighboring gene uncharacterized LOC101928415 Neighboring gene adhesion G protein-coupled receptor G2 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene pyruvate dehydrogenase E1 subunit alpha 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol The alpha subunit of phosphorylase kinase is preferentially cleaved at arg748-val749 by HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC133071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphorylase kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of phosphorylase kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphorylase b kinase regulatory subunit alpha, liver isoform
    Names
    phosphorylase kinase alpha L subunit
    phosphorylase kinase alpha-subunit
    NP_000283.1
    XP_005274605.1
    XP_005274607.1
    XP_006724559.1
    XP_006724561.1
    XP_011543839.1
    XP_011543840.1
    XP_016885069.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016622.1 RefSeqGene

      Range
      5249..97065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000292.3NP_000283.1  phosphorylase b kinase regulatory subunit alpha, liver isoform

      See identical proteins and their annotated locations for NP_000283.1

      Status: REVIEWED

      Source sequence(s)
      BC014036, CD722555, W63591, X80497
      Consensus CDS
      CCDS14190.1
      UniProtKB/Swiss-Prot
      P46019
      Related
      ENSP00000369274.4, ENST00000379942.5
      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      18892298..18984114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545537.3XP_011543839.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X3

      Conserved Domains (1) summary
      pfam00723
      Location:8406
      Glyco_hydro_15; Glycosyl hydrolases family 15
    2. XM_005274550.5XP_005274607.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X4

      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15
    3. XM_006724496.4XP_006724559.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X1

      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15
    4. XM_006724498.4XP_006724561.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X5

      Conserved Domains (1) summary
      pfam00723
      Location:1257
      Glyco_hydro_15; Glycosyl hydrolases family 15
    5. XM_017029580.2XP_016885069.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X6

    6. XM_011545538.3XP_011543840.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X7

      Conserved Domains (1) summary
      pfam00723
      Location:463580
      Glyco_hydro_15; Glycosyl hydrolases family 15
    7. XM_005274548.5XP_005274605.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X2

      Conserved Domains (1) summary
      pfam00723
      Location:8439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RNA

    1. XR_001755698.2 RNA Sequence

    2. XR_002958777.1 RNA Sequence

    3. XR_950461.3 RNA Sequence

    4. XR_001755697.2 RNA Sequence

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